Did Angelina make the right decision to be tested for BRCA gene mutations and have a double mastectomy? Here's what women's health expert Lauren Streicher, MD, thinks.

Related

“Many women are frightened at the possibility of developing ovarian
cancer. Women who have watched a mother or sister die from it are
terrified.”

That is the opening sentence of my chapter on ”Women at Genetic Risk
for Ovarian Cancer” in my book, The Essential Guide to Hysterectomy. My editor
tried really hard to convince me to leave it out of the final version. She
thought that the number of women at risk was too small to include it. At one
point she said she said, “This is only going to terrify women…there can’t be
that many women that are at risk!”

Angelina Jolie knows too well that women absolutely need this
information, which is why she made the brave choice to not only undergo
prophylactic breast removal surgery, but to announce it to the world. Having
lost a mother to ovarian cancer, she understands firsthand how important it is
to increase awareness of genetic risks for cancer. She knows, and wants the
world to know, that knowledge is power. If someone is aware they are
BRCA-positive, this knowledge can translate into action, which will
dramatically reduce or eliminate the risk of not only breast cancer but ovarian
cancer. It is a gift to have that opportunity.

Throughout my gynecologic career I have told women many times that
they have ovarian cancer. It’s not easy. I also routinely tell women they are
BRCA positive. Trust me, it is much easier to talk about strategies to decrease
or eliminate the risk of cancer than to tell someone they already have
it.

So who is at risk at risk? Was my editor correct that only a small
number of women would be interested in the information? Hardly. Each year
200,000 women are told they have breast cancer. Roughly 22,000 are diagnosed
with ovarian cancer. Of those, 5 to 10 percent are carriers of a BRCA mutation,
which is responsible for their cancer. Half-million women in the United States
have this gene mutation, but only 4 percent are aware of it. In other words, 96
percent of woman that are at very high risk for developing breast or ovarian
cancer don’t even know it.

Genes. Remember that joke that circulated during
7th grade? If a kid has long hair, how do you know if
it’s a boy or a girl? You pull down their genes! Genes, of course, are the
parts of each cell that contain hereditary information that determines if you
are destined to inherit your mom’s blonde hair and your dad’s high blood
pressure. Every gene has a job. The job of a normal BRCA gene is to stop
cancer. A mutation is a misspelling of the gene that changes its function. If a
BRCA mutation occurs, the gene can no longer do its job, and cancer – which
means breast and ovarian cancer is more likely to grow. Like any other gene
glitch, BRCA mutations can be passed on from a mother or father to their
children, which is why both your mother and father’s medical history is equally
relevant.

Certain groups of people, such as Eastern European Jews, are more
likely to carry a BRCA mutation. But I want to emphasize that this mutation is
not limited to any specific ethnic group; 1 in 200 people in the general
population have a BRCA mutation. Since the majority of the population is not
Jewish, neither are the majority of women who carry the BRCA gene.

Family history is key to determining the likelihood for hereditary
cancer. Sometimes this is hard information to get, especially if you come from
a family that, unlike my family, doesn’t regularly broadcast their gynecologic
problems at the dinner table. Sometimes all you have to go on is hearing
someone say “Aunt Linda died from (whisper) female trouble: or “Cousin Debbie
had problems down there” — or the very specific “Cancer…all over!”

Should You Be Tested?

Here are some guidelines. If you have one relative with bilateral
breast cancer, breast and/or ovarian cancer, male breast cancer, or a known
BRCA mutation, testing is appropriate. If you are of Ashkenazi Jewish ancestry
you only need one close relative with breast or ovarian cancer to be at risk.

Testing is also appropriate if you have two relatives with breast
cancer (one if the cancer was diagnosed before age 50), two relatives with
ovarian cancer (any age) or one relative with breast cancer and one with
ovarian cancer. If you personally have breast or ovarian cancer, testing is
also sometimes appropriate.

The BRCA mutation is detected by a blood test. Not everyone needs to
be tested, and it is not part of routine blood work. Insurance will not cover
the test (it is very expensive) unless they decide you are high risk for the
mutation, so verify coverage before you demand to have the test.

Not too long ago I flew to New York to give a talk on the BRCA
mutation. Given the way we are smashed in like sardines, it’s not unusual for
whoever is sitting next to me on a plane to get an eyeful of whatever I’m
working on. I happen to have a fear of flying and it was pretty turbulent.
Miraculously, we landed and as I emerged from crash position I heard a voice
say, “I’m at risk.” I turned to the woman next to me. “Excuse me for reading
your presentation, but I’m at risk.“ I said, “Oh, so you’re familiar with
BRCA?” She said, “No, I never even heard of BRCA before. But now I know I am at
risk and I am going to talk to my doctor about being tested.”

Thank you, Angelina, for increasing awareness. You saved many lives
today. You can slay the dragon you see coming, and too many women unknowingly
have their backs turned.

Lauren Streicher, MD, is an Assistant Clinical Professor of Obstetrics and Gynecology at Northwestern University’s medical school, The Feinberg School of Medicine, in Chicago and is the founder of Gynecologic Specialists of Northwestern, SC. Her clinical interests include all aspects of gynecology, but Dr. Streicher has a particular interest and expertise in menopause, sexual health, laparoscopic hysterectomy and alternatives to hysterectomy.

This site complies with the HONcode standard for trustworthy health information: verify here.

Advertising Notice

This Site and third parties who place advertisements on this Site may collect and use information about
your visits to this Site and other websites in order to provide advertisements about goods and services of
interest to you. If you would like to obtain more information about these advertising practices and to make
choices about online behavioral advertising, please click here.